rs143066432

This variant is located in the TICAM1 gene.

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ClinVar annotation

Uncertain Significance★★★☆

4 submitters2 publications

Herpes simplex encephalitis, susceptibility to, 4; not specified; not provided

About TICAM1

This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. Mutations in this gene are associated with encephalopathy, acute, infection-induced. [provided by RefSeq, Jul 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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